A novel heterozygous ANO3 mutation responsible for myoclonus-dystonia
Objective: We present a family carrying ANO3 mutation and exhibiting a myoclonus-dystonia and tremor phenotype. Background: Mutations of Anoctamine 3 gene (ANO3) are a rare…Rapidly onset progressive generalised dystonia parkinsonism in a young Indian male with rare FBXO 7 genetic mutation
Objective: To describe a rare case of rapidly progressive generalized dystonia parkinsonism due to FBXO7 gene mutation. Background: Parkinson’s disease is a neurodegenerative disorder of…Two Patients with Dopamine Transporter Deficiency Treated with Deep Brain Stimulation
Objective: Dopamine transporter deficiency syndrome (DTDS,) a rare disease characterized by infantile –onset progressive dystonia, has no established treatment guidelines. Treatment is generally predicated on…Movement disorders in late-onset inborn errors of metabolism – a new diagnostic algorithm
Objective: We propose a novel diagnostic algorithm to help clinicians to diagnose inborn errors of metabolism (IEM) in adolescents and adults that present with a…Genetic and clinical investigation of young onset dystonia in Korea: What can we learn?
Objective: In this study, we performed whole exome sequencing (WES) in Korean patients with young-onset dystonia, and investigated important factors associated with WES in dystonia.…Associations of Genetic, Epigenetic and Phenotypic Measures in the Dominican Republic PKAN Cohort
Objective: To explore relationships between demographic, clinical and behavioral phenotypes and underlying genetic and epigenetic features, utilizing a large cohort of PKAN patients. Background: PKAN…Unusual expression of fragile X premutation in a female patient: clinical and tractographic description
Objective: To present a case of dystonic head tremor in a female FMR1 premutation carrier. Background: Fragile X-associated tremor ataxia syndrome (FXTAS) is the main…X-chromosomal Dystonia-Parkinsonism: a systematic review of published and unpublished clinical data
Objective: To summarize and curate all published clinical data on x-chromosomal dystonia-parkinsonism (XDP) patients; identify relevant researches working on XDP and contact them for additional…Pregnancy and Delivery Complications in Women with Inherited Isolated Dystonia
Objective: To determine whether female mutation carriers of inherited dopa-responsive (DRD) and DYT/TOR1A genes had higher pregnancy and delivery complications than non-carriers Background: Women with…MDS Rare Movement Disorders Study Group Global Genetic Testing Survey: exploring the unmet needs
Objective: To better understand access to genetic testing at the international level. Background: One of the objectives of the Rare Diseases Study Group (RDSG) of…
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